publication date: Jul 16, 2012
|
author/source: Alto Marketing Limited
Population
Genetics Technologies Ltd. and the University of Cambridge's Autism Research
Centre have begun a joint study to identify sequence variants in two genes,
both of which have been previously associated with Asperger Syndrome.
Under
the agreement Population Genetics will undertake the genetic analysis and
retain rights to commercialise any biomarkers discovered. Results of the study
are expected during 2012.
The
study is based on 1000 samples, half of which are from people with high
functioning autism or Asperger Syndrome, and half are from controls. In this
study, Population Genetics will be applying its proprietary Reflex
TM technology
that allows variant discovery along a discrete contiguous target in large
populations.
The
study uses buccal (mouth swab) samples, which are less invasive to collect than
blood samples: having a technology such as Reflex
TM which can make use of buccal
samples is important for the large population studies in which Population
Genetics specialises.
Professor
Simon Baron-Cohen, Director of the Autism Research Centre (ARC) at Cambridge,
said: "Most genetic studies have focused on classic autism but the genetics of
high-functioning autism may yield valuable insights because these are
individuals who do not have associated learning disability or language delays.
Working with Population Genetics gives us an exciting way to test our previous
findings that variations within these two genes are associated with high
functioning autism or Asperger Syndrome."
Dr
Bhismadev Chakrabarti, Director of Genetics at the ARC, said: "These genes are
prime candidates for helping us understand abnormalities in sex-steroid
hormones and neural connectivity respectively".
This
study is one of a number being conducted by the ARC to examine if single
nucleotide polymorphisms (SNPs) in these candidate genes differ in their frequency
between cases and controls; or if these SNPs are associated with phenotypic
measures that the ARC has developed, such as the Autism Spectrum Quotient.
Another of the ARC's goals is to test if the same or different associations are
found in Asperger Syndrome and classic autism.
Alan
Schafer, CEO of Population Genetics, commented: "We are pleased to be working
with Professor Baron-Cohen on a syndrome of such genetic and symptomatic
complexity. Unravelling the underlying genetic contributions could provide a
path towards a better understanding of causation and potentially to markers to
guide further investigation."
For more information contact
Dr. Frank Massam,Chief Commercial Officer, +44 (0)1223 497359, email
frank.massam@populationgenetics.com or visit
www.populationgenetics.com
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